Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3853839
rs3853839
TLR7
10 0.752 0.480 X 12889539 3 prime UTR variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs5743733
rs5743733
TLR7
2 0.925 0.280 X 12871589 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs6318
rs6318
HTR2C ; LOC105373313
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs149034313
rs149034313
LIMK2
1 1.000 0.200 22 31278338 missense variant C/G;T snv 6.4E-03; 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs2096525
rs2096525
MIF ; MIF-AS1
6 0.827 0.280 22 23894632 non coding transcript exon variant T/C snv 0.20 0.20 0.010 1.000 1 2012 2012
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs146597836
rs146597836
ADA2
1 1.000 0.200 22 17189987 missense variant C/T snv 1.8E-03 1.6E-03 0.700 0
dbSNP: rs750868279
rs750868279
ADA2
1 1.000 0.200 22 17203576 missense variant G/A snv 5.2E-05 4.9E-05 0.700 0
dbSNP: rs2834643
rs2834643
RUNX1
1 1.000 0.200 21 34814099 intron variant A/G snv 0.42 0.010 1.000 1 2013 2013
dbSNP: rs2838519
rs2838519
GATD3A
4 0.851 0.280 21 44195140 intron variant G/A;C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs762421
rs762421
GATD3A
4 0.851 0.360 21 44195678 intron variant G/A snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.030 0.667 3 2012 2017
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2015 2017
dbSNP: rs4810485
rs4810485
CD40
16 0.732 0.480 20 46119308 intron variant T/A;G snv 0.020 1.000 2 2012 2015
dbSNP: rs17577
rs17577
MMP9 ; SLC12A5-AS1
31 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs2903908
rs2903908
NCOA5
2 0.925 0.200 20 46065308 intron variant T/C snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2015 2015
dbSNP: rs3918242
rs3918242
MMP9
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 < 0.001 1 2015 2015
dbSNP: rs913678
rs913678 		6 0.882 0.240 20 50338887 regulatory region variant T/C snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.030 1.000 3 2001 2016
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 1.000 2 2010 2016
dbSNP: rs408290
rs408290
C3
1 1.000 0.200 19 6702011 intron variant G/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs111874856
rs111874856
ROCK1
1 1.000 0.200 18 21028924 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs112108028
rs112108028
ROCK1
1 1.000 0.200 18 20959861 missense variant G/A snv 0.010 1.000 1 2014 2014